Reposted by Gábor Erdős
(1/5)
Excited to share our latest preprint! We reveal how intrinsically disordered protein regions (IDRs) harbor critical pathogenic mutations, often overlooked in clinical genomics. 🧬
www.biorxiv.org/content/10.1...
#Genomics #Bioinformatics #AlphaMissense #IDPs #SLiMs #Dlab #IDP2Biomed #IDPfun2
biorxiv.org
Pathogenic Missense Mutations in Intrinsically Disordered Regions Reveal Functional and Clinical Signals
Intrinsically disordered regions (IDRs) play essential roles in signaling and regulation but remain under-characterized in the context of human disease. We analyzed nearly one million ClinVar missense...